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Renal amyloidosis: classification of 102 consecutive cases
Tavares, I.; Vaz, R.; Moreira, L.; Pereira, P.; Sampaio, S.; Vizcaíno, J.; Costa, P.P.; Lobato, L.Amyloidoses are a group of heterogeneous diseases classified according to the nature of their causative amyloid proteins. Commonly, paraffin-embedded tissue is used for the typing of amyloid by immunohistochemistry. DNA analysis should always be considered if hereditary amyloidosis is suspected. Since the kidneys are one of the organs that are most commonly involved in amyloid deposition in systemic amyloidoses...
Comparative evolutionary analysis of IL6 in lagomorphs
Neves, F.; Abrantes, J.; Costa, P.P.; Esteves, P.J.Background and aims: Interleukin 6 (IL6), also known as interferon beta 2, is a class-I helical cytokine with a broad spectrum of biological activities in humoral and cellular defense. This class of cytokines has a gene structure conserved throughout vertebrates, with five coding exons. IL6 is involved in the immune response against rabbit hemorrhagic disease virus that causes a highly fatal disease in the Euro...
IL-6 and TNF-alpha polymorphisms in portuguese psoriatic patients
Ferreira, J.P.; Torres, T.; Carvalho, C.; Bettencourt, A.; Leal, B.; Vasconcelos, C.; Costa, P.P.; Selores, M.; Silva, B.M.Introduction: Cytokines regulate the growth, function and differentiation of cells and help to steer immune response and inflammation. In this study we focused our attention in two proinflammatory cytokines: IL-6 and TNFa. It is known that their overexpression is responsible for initiation, maintenance and recurrence of skin lesions in psoriatic patients. Therefore, it is important to investigate genetic biomar...
Apoe isoforms in patients with psoriasis
Ferreira, J.C.P.; Torres, T.; Carvalho, C.A.; Bettencourt, A.; Leal, B.; Vasconcelos, C.; Costa, P.P.; Selores, M.; Silva, B.M.Introduction: Psoriasis is a chronic inflammatory skin disease affecting 2–3% of the world population. Patients with psoriasis (Ps) have higher prevalence of lipid disorders when compared to unaffected individuals. These patients, especially those with severe and prolonged disease, have an increased morbidity and mortality from cardiovascular events. Apolipoprotein E (ApoE), a protein involved in lipid metaboli...
Familial pseudoxanthoma elasticum with nephrocalcinosis: a case report
Lacerda, P.; Beirão, I.; Pestana, P.; Beirão, J.M.; Freitas, C.; Rocha, M.J.; Cabrita, A.; Costa, P.P.Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by progressive calcification and fragmentation of elastic fibres. PXE commonly involves the reticular dermis, the Bruch membrane of the eye, and blood vessels. PXE is caused by mutations in the ABCC6 gene. More than 300 pathogenic ABCC6 mutations are known. Two of these mutations are common: p.R1141X in exon 24, with a preva...
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic v...
Kasperavičiute, D.; Catarino, C.B.; Matarin, M.; Leu, C.; Novy, J.; Tostevin, A.; Leal, B.; Hessel, E.V.S.; Hallmann, K.; Hildebrand, M.S.; Dahl, H-H.M.Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause o...
TTRV30M oligomeric aggregates inhibit proliferation of renal progenitor cells b...
Moreira, L.; Ballerini, L.; Peired, A.; Sagrinati, C.; Parente, E.; Angelotti, M.L.; Ronconi, E.; Lazzeri, E.; Mazzinghi, B.; Lacerda, P.; Beirão, I.Publicado em: The Proceedings of the XIIIth International Symposium on Amyloidosis, May 6-10, 2012, Groningen, The Netherlands ; In Familial Amyloidotic Polyneuropathy, the amyloid deposition of mutant transthyretin TTR V30M can lead to renal complications. An unexplored mechanism is the toxicity of oligomeric TTR aggregates. A subset of renal progenitor cells (RPC) in the adult human kidney can induce regener...
Over-expression of cyclooxygenase-2 in endoscopic biopsies of ectopic gastric m...
Martins,F.P.; Artigiani Neto,R.; Oshima,C.T.; Costa,P.P. da; Forones,N.M.; Ferrari,A.P.Ectopic gastric mucosa (EGM) is considered to be a congenital condition. Rare cases of adenocarcinoma have been described. There are no data justifying regular biopsies or follow-up. Cyclooxygenase-2 (COX-2) is a protein involved in gastrointestinal tumor development by inhibiting apoptosis and regulating angiogenesis. The aim of this prospective study was to evaluate COX-2 expression in EGM and compare it with...
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